Potential association of hyperhomocysteinemia with the progression of IgA nephropathy: a retrospective study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The high blood homocysteine (Hcy) levels found in patients with hyperhomocysteinemia (HHcy) have been implicated in an increased risk of cardiovascular disease morbidity and mortality in end-stage renal disease (ESRD). This study investigated the association of HHcy with progression of IgA nephropathy.</p><p><b>METHODS</b>We analyzed 108 participants newly diagnosed with IgA nephropathy between August 2005 and August 2007 in the Department of Nephrology, Chinese People's Liberation Army General Hospital. The association between clinicopathological factors and the Hcy levels were analyzed by Logistic regression and those with ESRD risk were analyzed by Cox regression.</p><p><b>RESULTS</b>Patients were aged (35.71 ± 10.73) years and included 45.71% women and 12.04% patients with HHcy. In multivariate Logistic regression analysis, HHcy was associated with arterial lesions (OR 2.60; 95% CI 1.55 ± 4.34; P < 0.001) even when age, body mass index, estimated glomerular filtration rate, mean arterial pressure, and initial proteinuria were taken into account. Mean follow-up was (67.37 ± 16.21) months. HHcy was also associated with worse ESRD-free survival (HR 4.71; 95% CI 1.45 to 15.31; P = 0.010).</p><p><b>CONCLUSION</b>HHcy is associated with the risk of intrarenal arterial lesions and may be useful for estimating the prognosis of IgA nephropathy.</p>

A female patient of Fabry disease complicated with thin basement membrane nephropathy and investigation of the kindred / 中华肾脏病杂志

Objective To elucidate the features of clinicopathology and mutation in Fabry disease complicated with thin basement membrane nephropathy (TBMN), and to investigate the kindred. Methods Data of clinicopathology and gene mutation of a female patient of Fabry disease complicated with TBMN admitted to the Department of Nephro]ogy in our hospital were analyzed. Members of her kindred were investigated simultaneously. Results Proband was a 41-year-old Chinese woman who presented syndrome of Fabry disease and TBMN including angiokeratomas, chronic pain, tinnitus, vertigo, left ventricular hypertrophy and nephropathy as proteinuria, microscopic hematuria and hypertension. A percutaneous renal biopsy was performed on the proband, which was consistent with FSGS and vaculization of podocytes by light microscopy.Electron microscopy showed concentric lamellated inclusions in some podocytes. Diffuse thinning of glomerular basement membrane (GBM) with a mean thickness of (216±31) nm was found. The diagnosis of TBMN with suspected Fabry disease was identified. Family screening showed that her daughter had microscopic hematuria, tinnitus and neuropathic pain. One of her sisters only had microscopic hematuria. The activity of α-galacsidase A (α-Gal A )enzyme in the proband and her daughter was 33 units and 75 units respectively (the normal range is 100 to 500 units). They all carried the novel GLA mutation 1208 ins 21 bp and COL4A3 SNP c: 3627G＞A(p:M1209I). While her sister who only had microscopic hematuria just carried the variant of COL4A3 gene-c:3627G ＞A (p:M1209I), and had the normal activity of α-Gal A with no mutation of GLA.Conclusion TBMN should be considered in the patients of Fabry disease with the condition of benign familial hematuria.